Our Combination Test is designed to be most helpful when a patient has findings suspicious of multiple potential genetic causes (microdeletions, microduplications, isodisomy, single gene conditions, etc.), generally the result of clinical ambiguity due to marked phenotypic overlap between various syndromes or numerous genetic causes for a single disorder.

Ordering our Combination Test, rather than ordering the component tests sequentially, shortens the turnaround time for test results.

Combination testing requires a single sample submission, ideal for difficult to draw patients.

Combination testing is NOT whole exome sequencing or whole genome sequencing and does not detect small partial or whole gene deletions and duplications, balanced chromosome rearrangements, or low level mosaicism. The test will only identify single gene mutations in the genes included on the Autism/Intellectual Disability/Multiple Anomalies Next Generation Sequencing Panel.

Our Combination Test will not identify small partial or whole gene deletions and duplications. For some genes, deletion and duplication analysis by an additional testing method, such as Multiple Ligation Probe Analysis (MLPA), may be indicated.

For some indications, additional genetic testing may be appropriate. For example, if an imprinting disorder, such as Angelman syndrome, is suspected, methylation analysis may be indicated. Recommendations for additional testing differ based on the disorder suspected.

If trisomy 13, 18, or 21 (Down syndrome) is suspected, chromosome analysis is recommended as the first-tier test.

1) Access the postnatal test request form on the Human Genetics Laboratory website.2) Complete the 2-page form. Under TEST SELECTION, mark the box next to the Combination Testing: NGS / Microarray to order tests simultaneously.3) When ordering tiered testing, such as one test at a time, under SPECIAL TEST INSTRUCTIONS, indicate the order in which you would like the tests performed. For example, “Please complete microarray first. If negative, reflex to Next Gen Sequencing.”4) Provide any clinical information that may be important for interpretation.5) Obtain insurance pre-authorization when necessary; forms available.6) Following HGL shipping & handling requirements, send completed test request form and specimen at room temperature within 24 hours of collection.